Pulmonary manifestations of chronic granulomatous disease

Expert Review of Clinical Immunology

Volumn 9, Issue 2, 2013, Pages 153-160

  Mahdaviani, Seyed Alireza ^a   Mohajerani, Seyed Amir ^b   Rezaei, Nima ^c,f   Casanova, Jean Laurent ^d   Mansouri, Seyed Davood ^b   Velayati, Ali Akbar ^e  

^a SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^c TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^d ROCKEFELLER UNIVERSITY   (United States)

^e SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^f TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

chronic granulomatous disease; manifestation; pulmonary; radiology; treatment

Indexed keywords

CIPROFLOXACIN; CORTICOSTEROID; COTRIMOXAZOLE; GAMMA INTERFERON; INFLIXIMAB; ITRACONAZOLE; MEROPENEM; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE; STEROID; VORICONAZOLE;

ADD ON THERAPY; ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION; ANTIBIOTIC THERAPY; ASPERGILLOSIS; ATELECTASIS; BRONCHIECTASIS; BRONCHITIS; CHRONIC GRANULOMATOUS DISEASE; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; ENTERITIS; GENETIC DISORDER; GENETIC SUSCEPTIBILITY; HUMAN; IMMUNOSUPPRESSIVE TREATMENT; INFECTION; INFLAMMATION; LUNG DISEASE; LUNG FIBROSIS; LUNG INFECTION; LUNG TUBERCULOSIS; PHAGOCYTE; PLEURA EFFUSION; PNEUMONIA; PROGNOSIS; RADIODIAGNOSIS; RECURRENT INFECTION; RESPIRATORY BURST; RESPIRATORY FAILURE; REVIEW;

ADULT; ANIMALS; CHILD; DIAGNOSIS, DIFFERENTIAL; GRANULOMA; GRANULOMATOUS DISEASE, CHRONIC; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMANS; LUNG; MUTATION; NADPH OXIDASE; PHAGOCYTES;

EID: 84873574950     PISSN: 1744666X     EISSN: 17448409     Source Type: Journal    
DOI: 10.1586/eci.12.98     Document Type: Review

References (59)

1. Bridges RA, Berendes H, Good RA. A fatal granulomatous disease of childhood; the clinical, pathological, and laboratory features of a new syndrome. AMA J. Dis. Child. 97(4), 387-408 (1959
2. Segal BH, Leto TL, Gallin JI, Malech HL, Holland SM. Genetic, biochemical, and clinical features of chronic granulomatous disease. Medicine 79(3), 170-200 (2000
3. Winkelstein JA, Marino MC, Johnston RB Jr et al. Chronic granulomatous disease. report on a national registry of 368 patients. Medicine (Baltimore) 79(3), 155-169 (2000
4. Liese JG, Jendrossek V, Jansson A et al. Chronic granulomatous disease in adults. Lancet 347(8996), 220-223 (1996
5. Matute JD, Arias AA, Wright NA et al. A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity. Blood 114(15), 3309-3315 (2009
6. Kuhns DB, Alvord WG, Heller T et al. Residual NADPH oxidase and survival in chronic granulomatous disease. N. Engl. J. Med. 363(27), 2600-2610 (2010
7. Fattahi F, Badalzadeh M, Sedighipour L et al. Inheritance pattern and clinical aspects of 93 Iranian patients with chronic granulomatous disease. J. Clin. Immunol. 31(5), 792-801 (2011
8. Rezaei N, Pourpak Z, Aghamohammadi A et al. Consanguinity in primary immunodeficiency disorders; the report from Iranian Primary Immunodeficiency Registry. Am. J. Reprod. Immunol. 56(2), 145-151 (2006
9. Kang EM, Marciano BE, DeRavin S, Zarember KA, Holland SM, Malech HL. Chronic granulomatous disease: Overview and hematopoietic stem cell transplantation. J. Allergy Clin. Immunol. 127(6), 1319-26; quiz 1327 (2011
10. Martire B, Rondelli R, Soresina A et al.; IPINET. Clinical features, long-term follow-up and outcome of a large cohort of patients with chronic granulomatous disease: An Italian multicenter study. Clin. Immunol. 126(2), 155-164 (2008
11. Movahedi M, Aghamohammadi A, Rezaei N et al. Chronic granulomatous disease: A clinical survey of 41 patients from the Iranian primary immunodeficiency registry. Int. Arch. Allergy Immunol. 134(3), 253-259 (2004
12. Norouzi S, Aghamohammadi A, Mamishi S, Rosenzweig SD, Rezaei N. Bacillus Calmette-Guérin (BCG) complications associated with primary immunodeficiency diseases. J. Infect. 64(6), 543-554 (2012
13. Marciano BE, Rosenzweig SD, Kleiner DE et al. Gastrointestinal involvement in chronic granulomatous disease. Pediatrics 114(2), 462-468 (2004
14. Mansouri D, Adimi P, Mirsaedi M et al. Primary immune deficiencies presenting in adults: Seven years of experience from Iran. J. Clin. Immunol. 25(4), 385-391 (2005
15. van den Berg JM, van Koppen E, Ahlin A et al. Chronic granulomatous disease: The European experience. PLoS ONE 4(4), e5234 (2009
16. Carnide EG, Jacob CA, Castro AM, Pastorino AC. Clinical and laboratory aspects of chronic granulomatous disease in description of eighteen patients. Pediatr. Allergy Immunol. 16(1), 5-9 (2005
17. Kobayashi S, Murayama S, Takanashi S et al. Clinical features and prognoses of 23 patients with chronic granulomatous disease followed for 21 years by a single hospital in Japan. Eur. J. Pediatr. 167(12), 1389-1394 (2008
18. Liese J, Kloos S, Jendrossek V et al. Long-term follow-up and outcome of 39 patients with chronic granulomatous disease. J. Pediatr. 137(5), 687-693 (2000
19. Godoy MC, Vos PM, Cooperberg PL, Lydell CP, Phillips P, Müller NL. Chest radiographic and CT manifestations of chronic granulomatous disease in adults. AJR Am. J. Roentgenol. 191(5), 1570-1575 (2008
20. Khanna G, Kao SC, Kirby P, Sato Y. Imaging of chronic granulomatous disease in children. Radiographics 25(5), 1183-1195 (2005
21. Johnston RB Jr. Clinical aspects of chronic granulomatous disease. Curr. Opin. Hematol. 8(1), 17-22 (2001
22. Almyroudis NG, Holland SM, Segal BH. Invasive aspergillosis in primary immunodeficiencies. Med. Mycol. 43(Suppl. 1), S247-S259 (2005
23. Marciano BE, Wesley R, De Carlo ES et al. Long-term interferon-gamma therapy for patients with chronic granulomatous disease. Clin. Infect. Dis. 39(5), 692-699 (2004
24. Segal BH, DeCarlo ES, Kwon-Chung KJ, Malech HL, Gallin JI, Holland SM. Aspergillus nidulans infection in chronic granulomatous disease. Medicine 77(5), 345-354 (1998
25. Dorman SE, Guide SV, Conville PS et al. Nocardia infection in chronic granulomatous disease. Clin. Infect. Dis. 35(4), 390-394 (2002
26. Lacy DE, Spencer DA, Goldstein A, Weller PH, Darbyshire P. Chronic granulomatous disease presenting in childhood with Pseudomonas cepacia septicaemia. J. Infect. 27(3), 301-304 (1993
27. Reichenbach J, Lopatin U, Mahlaoui N et al. Actinomyces in chronic granulomatous disease: An emerging and unanticipated pathogen. Clin. Infect. Dis. 49(11), 1703-1710 (2009
28. Vinh DC, Shea YR, Sugui JA et al. Invasive aspergillosis due to Neosartorya udagawae. Clin. Infect. Dis. 49(1), 102-111 (2009
29. Lee PP, Chan KW, Jiang L et al. Susceptibility to mycobacterial infections in children with X-linked chronic granulomatous disease: A review of 17 patients living in a region endemic for tuberculosis. Pediatr. Infect. Dis. J. 27(3), 224-230 (2008
30. Bustamante J, Aksu G, Vogt G et al. BCG-osis and tuberculosis in a child with chronic granulomatous disease. J. Allergy Clin. Immunol. 120(1), 32-38 (2007
31. Kuijpers T, Lutter R. Inflammation and repeated infections in CGD: Two sides of a coin. Cell. Mol. Life Sci. 69(1), 7-15 (2012
32. De Ravin SS, Naumann N, Cowen EW et al. Chronic granulomatous disease as a risk factor for autoimmune disease. J. Allergy Clin. Immunol. 122(6), 1097-1103 (2008
33. Tafti SF, Tabarsi P, Mansouri N et al. Chronic granulomatous disease with unusual clinical manifestation, outcome, and pattern of inheritance in an Iranian family. J. Clin. Immunol. 26(3), 291-296 (2006
34. Morgenstern DE, Gifford MA, Li LL, Doerschuk CM, Dinauer MC. Absence of respiratory burst in X-linked chronic granulomatous disease mice leads to abnormalities in both host defense and inflammatory response to Aspergillus fumigatus. J. Exp. Med. 185(2), 207-218 (1997
35. Siddiqui S, Anderson VL, Hilligoss DM et al. Fulminant mulch pneumonitis: An emergency presentation of chronic granulomatous disease. Clin. Infect. Dis. 45(6), 673-681 (2007
36. Brown KL, Bylund J, MacDonald KL et al. ROS-deficient monocytes have aberrant gene expression that correlates with inflammatory disorders of chronic granulomatous disease. Clin. Immunol. 129(1), 90-102 (2008
37. Segal BH, Han W, Bushey JJ et al. NADPH oxidase limits innate immune responses in the lungs in mice. PLoS ONE 5(3), e9631 (2010
38. De Ravin SS, Naumann N, Robinson MR et al. Sarcoidosis in chronic granulomatous disease. Pediatrics 117(3), e590-e595 (2006
39. Foster CB, Lehrnbecher T, Mol F et al. Host defense molecule polymorphisms influence the risk for immune-mediated complications in chronic granulomatous disease. J. Clin. Invest. 102(12), 2146-2155 (1998
40. Khalilzadeh S, Bloorsaz MR, Mansouri D, Baghaie N, Hakimi S, Velayati AA. Clinical and radiological aspects of chronic granulomatous disease in children: A case series from Iran. Iran. J. Allergy. Asthma. Immunol. 5(2), 85-88 (2006
41. Weening RS, Kabel P, Pijman P, Roos D. Continuous therapy with sulfamethoxazole- trimethoprim in patients with chronic granulomatous disease. J. Pediatr. 103(1), 127-130 (1983
42. Margolis DM, Melnick DA, Alling DW, Gallin JI. Trimethoprim- sulfamethoxazole prophylaxis in the management of chronic granulomatous disease. J. Infect. Dis. 162(3), 723-726 (1990
43. Petropoulou T, Liese J, Tintelnot K, Gahr M, Belohradsky BH. Long-term treatment of patients with itraconazole for the prevention of Aspergillus infections in patients with chronic granulomatous disease (CGD). Mycoses 37(Suppl. 2), 64-69 (1994
44. eview 44 Holland SM. Chronic granulomatous disease. Clin. Rev. Allergy Immunol. 38(1), 3-10 (2010
45. Uzel G, Orange JS, Poliak N, Marciano BE, Heller T, Holland SM. Complications of tumor necrosis factor-a blockade in chronic granulomatous disease-related colitis. Clin. Infect. Dis. 51(12), 1429-1434 (2010
46. Yamazaki-Nakashimada MA, Stiehm ER, Pietropaolo-Cienfuegos D, Hernandez- Bautista V, Espinosa-Rosales F. Corticosteroid therapy for refractory infections in chronic granulomatous disease: Case reports and review of the literature. Ann. Allergy Asthma Immunol. 97(2), 257-261 (2006
47. Seger RA, Gungor T, Belohradsky BH et al. Treatment of chronic granulomatous disease with myeloablative conditioning and an unmodified hemopoietic allograft: A survey of the European experience, 1985-2000. Blood 100(13), 4344-4350 (2002
48. Grez M, Reichenbach J, Schwäble J, Seger R, Dinauer MC, Thrasher AJ. Gene therapy of chronic granulomatous disease: The engraftment dilemma. Mol. Ther. 19(1), 28-35 (2011
49. Ott MG, Schmidt M, Schwarzwaelder K et al. Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16 or SETBP1. Nat. Med. 12(4), 401-409 (2006
50. Kang EM, Choi U, Theobald N et al. Retrovirus gene therapy for X-linked chronic granulomatous disease can achieve stable long-term correction of oxidase activity in peripheral blood neutrophils. Blood 115(4), 783-791 (2010
51. Aiuti A, Slavin S, Aker M et al. Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning. Science 296(5577), 2410-2413 (2002
52. Cale CM, Jones AM, Goldblatt D. Follow up of patients with chronic granulomatous disease diagnosed since 1990. Clin. Exp. Immunol. 120(2), 351-355 (2000
53. De Ravin SS, Naumann N, Cowen EW et al. Chronic granulomatous disease as a risk factor for autoimmune disease. J. Allergy Clin. Immunol. 122(6), 1097-1103 (2008
54. Guide SV, Stock F, Gill VJ et al. Reinfection, rather than persistent infection, in patients with chronic granulomatous disease. J. Infect. Dis. 187(5), 845-853 (2003
55. Carnide EG, Jacob CA, Castro AM, Pastorino AC. Clinical and laboratory aspects of chronic granulomatous disease in description of eighteen patients. Pediatr. Allergy Immunol. 16(1), 5-9 (2005
56. Lekstrom-Himes JA, Kuhns DB, Alvord WG, Gallin JI. Inhibition of human neutrophil IL-8 production by hydrogen peroxide and dysregulation in chronic granulomatous disease. J. Immunol. 174(1), 411-417 (2005
57. van de Veerdonk FL, Smeekens SP, Joosten LA et al. Reactive oxygen species-independent activation of the IL-1β inflammasome in cells from patients with chronic granulomatous disease. Proc. Natl. Acad. Sci. USA 107, 3030-3033 (2010
58. Kasahara Y, Iwai K, Yachie A et al Involvement of reactive oxygen intermediates in spontaneous and CD95 (Fas/APO-1)-mediated apoptosis of neutrophils. Blood 89(5), 1748-1753 (1997
59. Jones LB, McGrogan P, Flood TJ et al. Special article: Chronic granulomatous disease in the United Kingdom and Ireland: A comprehensive national patient-based registry. Clin. Exp. Immunol. 152(2), 211-218 (2008)